Variant report

Variant	rs16987713
Chromosome Location	chr2:20711719-20711720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20645469..20648554-chr2:20711081..20713863,4	MCF-7	breast:
2	chr2:20703282..20708679-chr2:20709033..20714740,6	MCF-7	breast:
3	chr2:20705997..20708328-chr2:20710442..20712863,2	K562	blood:
4	chr2:20709959..20713147-chr2:20833263..20835547,3	MCF-7	breast:
5	chr2:20707093..20712027-chr2:20723399..20727763,6	MCF-7	breast:
6	chr2:20646792..20648599-chr2:20709745..20713601,3	MCF-7	breast:
7	chr2:20709364..20711957-chr2:20717904..20721364,4	MCF-7	breast:
8	chr2:20672482..20676692-chr2:20708404..20712337,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13416452	1.00[MEX][hapmap]
rs16987711	0.84[YRI][hapmap]
rs73227401	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv873720	chr2:20645835-20756900	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv873721	chr2:20645835-20759789	Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv873723	chr2:20678000-20720237	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv873724	chr2:20678000-20757286	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	esv3434990	chr2:20711579-20711927	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20692400-20715200	Weak transcription	Right Atrium	heart
2	chr2:20697000-20714000	Weak transcription	Right Ventricle	heart
3	chr2:20697200-20714200	Weak transcription	HSMMtube	muscle
4	chr2:20706600-20715200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:20706600-20715800	Weak transcription	Brain Angular Gyrus	brain
6	chr2:20707200-20713800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:20707400-20713800	Weak transcription	NH-A	brain
8	chr2:20707400-20714000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:20707400-20714000	Weak transcription	HSMM	muscle
10	chr2:20707400-20723400	Weak transcription	Spleen	Spleen
11	chr2:20707600-20713800	Weak transcription	NHLF	lung
12	chr2:20708000-20713800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:20708800-20712400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:20709000-20712000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:20709400-20712000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:20709400-20715800	Weak transcription	Gastric	stomach
17	chr2:20710000-20714000	Weak transcription	Osteobl	bone
18	chr2:20710000-20715600	Weak transcription	Pancreas	Pancrea
19	chr2:20710200-20712000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:20710200-20714000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:20710200-20715800	Weak transcription	Lung	lung
22	chr2:20710400-20711800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:20710400-20713400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:20710400-20713800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:20710400-20713800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:20710600-20712000	Enhancers	Fetal Muscle Leg	muscle
27	chr2:20710600-20713800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:20710600-20713800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:20710800-20713800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:20710800-20714200	Enhancers	Hela-S3	cervix
31	chr2:20710800-20715200	Weak transcription	Brain Substantia Nigra	brain
32	chr2:20711000-20713800	Weak transcription	HMEC	breast
33	chr2:20711200-20712000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:20711200-20712000	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:20711200-20713800	Weak transcription	NHEK	skin
36	chr2:20711400-20712000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:20711400-20714000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:20711400-20715200	Weak transcription	Brain Anterior Caudate	brain
39	chr2:20711400-20716800	Enhancers	Placenta	Placenta
40	chr2:20711600-20712200	Enhancers	Esophagus	oesophagus
41	chr2:20711600-20713400	Weak transcription	HepG2	liver
42	chr2:20711600-20714400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:20711600-20716400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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